UniProtKB/Swiss-Prot Q8IYM1 : Variant p.Asp197Asn
Septin-12
Gene: SEPTIN12
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Variant information
Variant position:
197
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
The variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change:
From Aspartate (D) to Asparagine (N) at position 197 (D197N, p.Asp197Asn).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:
Change from medium size and acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution). More information can be found on the following page
Variant description:
In SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding; disrupts interaction with SEPTIN7, SEPTIN6 and SEPTIN2; absence of SEPTIN12, SEPTIN7, SEPTIN6, SEPTIN2 and SEPTIN4 from the sperm annulus; disrupts interaction with LMNB1.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
197
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
358
The length of the canonical sequence.
Location on the sequence:
IEFLQRLCRTVNVVPVIARA
D SLTMEEREAFRRRIQQNLRT
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:
The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human IEFLQRLCRTVNVVPVIARAD SLTMEEREAFRRRIQQNLRT
Rat IEFLRRLCRTVNVVPVIARAD SLTIEERDAFRSRIQQNLKN
Bovine LEFLQRLCRAVNVVPVIARAD SLTIEEREAFRHRIQDDLKT
Sequence annotation in neighborhood:
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Literature citations
SEPT12 mutations cause male infertility with defective sperm annulus.
Kuo Y.C.; Lin Y.H.; Chen H.I.; Wang Y.Y.; Chiou Y.W.; Lin H.H.; Pan H.A.; Wu C.M.; Su S.M.; Hsu C.C.; Kuo P.L.;
Hum. Mutat. 33:710-719(2012)
Cited for: SUBCELLULAR LOCATION; VARIANTS SPGF10 MET-89 AND ASN-197; CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197;
SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octomeric complexes with other SEPT proteins.
Kuo Y.C.; Shen Y.R.; Chen H.I.; Lin Y.H.; Wang Y.Y.; Chen Y.R.; Wang C.Y.; Kuo P.L.;
J. Cell Sci. 128:923-934(2015)
Cited for: FUNCTION; SUBUNIT; CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197;
SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells.
Yeh C.H.; Kuo P.L.; Wang Y.Y.; Wu Y.Y.; Chen M.F.; Lin D.Y.; Lai T.H.; Chiang H.S.; Lin Y.H.;
PLoS ONE 10:E0120722-E0120722(2015)
Cited for: INTERACTION WITH SPAG4 AND LMNB1; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPGF10 MET-89 AND ASN-197;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.